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Patient reviews for Doctors for Infantile Refsum Disease in Andul Road, Howrah
Ravi Verma's review for Dr. Diptanshu Das
He was friendly and cooperative. He took the trouble of explaining the situation very clearly to us. We have developed a strong... Read more reviews
INFANTILE REFSUM DISEASE
Infantile Refsum disease is an inborn error in the way phytanic acid is processed or metabolised in the body. Children with this disorder would display poor muscle coordination, mental disabilities, abnormal facial features and hearing loss
HOW IS INFANTILE REFSUM DISEASE DIAGNOSED?
Diagnosis of the same is done through molecular testing and you may have to undergo some scans and MRI.
HOW IS INFANTILE REFSUM DISEASE TREATED?
Treatment of Refsum disease involves following a strict diet low in phytanic acid found in dairy products, beef, lamb and some seafoods and high in calories. The removal and reinfusion of blood plasma (plasmapheresis) may also be required. Other treatment is symptomatic and supportive.
DID YOU KNOW?
There is a high risk of death here because of organic failures and similar complications though some infants are known to survive and sail through old age.